Scientific Publications

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

Professional(s) : Florina Stoica, Adela Chirita Emandi

Center(s) : Emergency Clinical Municipal Hospital Timisoara, Romania

Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers

Professional(s) : João Pedro Marques

Center(s) : Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal

Working group(s) : Retinal Rare Eye Diseases (WG1)

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Professional(s) : Ingeborgh VAN DEN BORN

Center(s) : The Rotterdam Eye Hospital, Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Relationship between the full-field stimulus test and self-reported visual function in patients with retinitis pigmentosa: REPEAT Study report No. 3

Professional(s) : Camiel BOON

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center

Working group(s) : Retinal Rare Eye Diseases (WG1)

Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X-linked retinoschisis patients

Professional(s) : Camiel BOON

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center

Working group(s) : Retinal Rare Eye Diseases (WG1)

Test-retest variability of the full-field stimulus test in patients with retinitis pigmentosa: REPEAT Study Report No. 4

Professional(s) : Camiel BOON

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center

Working group(s) : Retinal Rare Eye Diseases (WG1)

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population

Professional(s) : Alberta Thiadens

Center(s) : Erasmus MC: University Medical Center Rotterdam, Netherlands

Working group(s) : Retinal Rare Eye Diseases (WG1)

Inner Retina Changes in ABCA4-Related Retinopathy: Structure-Function Relationship

Professional(s) : Benedetto Falsini

Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy

Working group(s) : Retinal Rare Eye Diseases (WG1)

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa

Professional(s) : Benedetto Falsini

Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy

Working group(s) : Retinal Rare Eye Diseases (WG1)

The Impacts of Caregiving for Patients with X-Linked Retinitis Pigmentosa (XLRP): Findings from the EXPLORE XLRP-2 Study

Professional(s) : Francesco PARMEGGIANI, Dominique BREMOND-GIGNAC, Markus Ritter, Katarina Stingl

Center(s) : Center for Retinitis Pigmentosa of the Veneto Region - Camposampiero Hospital (Azienda ULSS 6 Euganea), Padova, Italy ; OPHTARA - AP-HP, Hôpital Necker-Enfants Malades, Paris, France ; Medical University of Vienna, Dept of Ophthalmology, Vienna, Austria ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Working group(s) : Retinal Rare Eye Diseases (WG1)